Hereditary Endometrial and Ovarian Cancers

Abstract

Hereditary gynecological cancers including those of the endometrium and ovaries account for 5% and 12% of all these tumors, respectively. Hereditary cancers are suspected in women presenting with gynecological malignancies at a relatively young age or with a family history of cancer, usually of a specific cancer syndrome, in two or more relatives. The familial aggregation of cancers can be attributed to both genetic and environmental factors common within families, but genetic factors are thought to be more important. This chapter elaborates the genetic syndromes like hereditary nonpolyposis colorectal cancer (HNPCC) syndrome also known as Lynch syndrome, hereditary breast and ovarian cancer (HOBC) syndrome, Cowden syndrome, Li-Fraumeni syndrome, and Peutz-Jeghers syndrome, which are found to be responsible for majority of the hereditary gynecological malignancies. The screening guidelines along with the newer available diagnostic methods and treatment modalities based on the recent available evidence are discussed.